HumanRECQHelicase Pathogenic Variants, Population Variation and “Missing” Diseases-Reference-Cited by-同舟云学术

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HumanRECQHelicase Pathogenic Variants, Population Variation and “Missing” Diseases

Published:2016-12-09 Issue:2 Volume:38 Page:193-203
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Fu Wenqing¹,Ligabue Alessio²,Rogers Kai J.³⁴,Akey Joshua M.¹,Monnat Raymond J.¹²

Affiliation:

1. Department of Genome Sciences; University of Washington; Seattle Washington

2. Department of Pathology; University of Washington; Seattle Washington

3. Department of Microbiology; University of Washington; Seattle Washington

4. University of Iowa College of Medicine; Iowa City Iowa

Funder

National Heart, Lung, and Blood Institute

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference86 articles.

1. Predicting functional effect of human missense mutations using PolyPhen-2;Adzhubei;Curr Protoc Hum Genet,2013

2. A novel Werner Syndrome mutation: Pharmacological treatment by read-through of nonsense mutations and epigenetic therapies;Agrelo;Epigenetics,2015

3. Discovering motifs that induce sequencing errors;Allhoff;BMC Bioinformatics,2013

4. Tandem repeats finder: A program to analyze DNA sequences;Benson;Nucleic Acids Res,1999

5. Congenital telangiectatic erythema resembling lupus erythematosus in dwarfs;Bloom;Am J Dis Child,1954

Cited by 24 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. WRN exonuclease imparts high fidelity on translesion synthesis by Y family DNA polymerases;Genes & Development;2024-03-01

2. Understanding the Human RECQ5 Helicase—Connecting the Dots from DNA to Clinics;Cells;2023-08-10

3. Discovery of a new hereditary RECQ helicase disorder RECON syndrome positions the replication stress response and genome homeostasis as centrally important processes in aging and age-related disease;Ageing Research Reviews;2023-04

4. Werner Syndrome;Encyclopedia of Gerontology and Population Aging;2021

5. Single-molecule visualization of human RECQ5 interactions with single-stranded DNA recombination intermediates;Nucleic Acids Research;2020-12-17

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